Variant Results

or

Results for "TBCEL"

Variant Events: 11

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

TBCEL

2-1296-003

chr11:
120967976-120967976

T

C

intergenic

De novo

-

Yuen2017 G

TBCEL

5-5077-003

chr11:
120922918-120922918

A

G

intronic

De novo

-

Trost2022 G

TBCEL

7-0281-003

chr11:
120941871-120941871

A

G

intronic

De novo

-

Trost2022 G

TBCEL

3-0072-000

chr11:
120898703-120898703

T

G

intronic

De novo

-

Trost2022 G

TBCEL

12274.p1

chr11:
120926018-120926018

G

T

splicing

De novo

splicing

23.6

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TBCEL

SSC04643

chr11:
120926018-120926018

G

T

splicing

23.6

-

Antaki2022 GE

TBCEL

SP0110886

chr11:
120925994-120925994

G

T

exonic

De novo

nonsynonymous SNV

NM_001130047
NM_152715

c.G689T
c.G689T

p.R230L
p.R230L

28.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TBCEL

AU3052302

chr11:
120962151-120962151

G

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TBCEL

SP0034517

chr11:
120925993-120925993

C

T

exonic

De novo

stopgain

NM_001130047
NM_152715

c.C688T
c.C688T

p.R230X
p.R230X

36.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TBCEL

2-1422-003

chr11:
120926714-120926714

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TBCEL

1-0585-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
	More